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首页> 外文期刊>Journal of paediatrics and child health >Parent–child genetic testing for familial hypercholesterolaemia in an Australian context
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Parent–child genetic testing for familial hypercholesterolaemia in an Australian context

机译：澳大利亚语境中家族高胆固醇血症的亲子儿童遗传学试验

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Aim The aim of this study was to evaluate the clinical outcome of parent–child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child. Methods Parent–child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low‐density lipoprotein (LDL)‐cholesterol that best predicted a mutation and the proportional reduction in LDL‐cholesterol following statin treatment was evaluated. Treatment costs were calculated as the cost per mmol/L reduction in LDL‐cholesterol. Results A total of 126 adult patients, known to have a pathogenic mutation causative of FH, and their children were studied. From 244 children identified, 148 (60.7%) were genetically screened; 84 children were identified as mutative positive (M+) and 64 as mutative negative. Six of the M+ children were already on statin treatment; 40 were subsequently treated with low‐dose statins, with LDL‐cholesterol falling significantly by 38% ( P 0.001). The estimated cost per mmol/L reduction of LDL‐cholesterol of a child receiving statins from ages 10 to 18 years is AU$1361, which can potentially be cost‐effective. An LDL‐cholesterol threshold of 3.5 mmol/L had a sensitivity of 92.8% and specificity of 96.6% for the detection of a mutation. Conclusion Genetic testing of children of affected parents with FH is an effective means of detecting new cases of FH. Cascade testing can enable early statin therapy with significant reductions in LDL‐cholesterol concentration.
机译：目的本研究的目的是评估采用基因检测的亲子检测家族性高胆固醇血症（FH）的临床结果，以及治疗每个儿童可能的额外费用。方法根据澳大利亚指南进行FH致病基因变异的亲子检测。对检测到的新病例数量、最能预测突变的低密度脂蛋白（LDL）胆固醇以及他汀类药物治疗后LDL胆固醇的比例降低进行了评估。治疗成本计算为LDL-胆固醇每mmol/L降低的成本。结果共有126名成人患者及其子女接受了FH致病性突变研究。在确定的244名儿童中，148名（60.7%）进行了基因筛查；84名儿童被鉴定为突变阳性（M+），64名儿童被鉴定为突变阴性。其中6名M+儿童已经在接受他汀类药物治疗；40名患者随后接受了低剂量他汀类药物治疗，LDL胆固醇显著下降38%（P；0.001）。对于10至18岁接受他汀类药物治疗的儿童，每mmol/L降低LDL-胆固醇的估计成本为1361澳元，这可能具有成本效益。LDL-胆固醇阈值为3.5 mmol/L时，检测突变的敏感性为92.8%，特异性为96.6%。结论对FH患者父母的子女进行基因检测是发现新的FH病例的有效手段。级联试验可以使早期他汀类药物治疗显著降低LDL-胆固醇浓度。

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